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Attention—this just in! When we have something important to announce, this is where we’ll do it. We’re happy to keep you informed, so be sure to come back and visit this section often. You never know what you might discover.

The Jeffrey Modell Foundation has long supported and recognized the importance of School Nurses! Reaching 98% of US public school students, you are the “first line of defense,” in recognizing children who may suffer from repeated infections and missed days at school. You are the first point of contact when our children aren’t feeling well.

We share a common mission of helping children stay healthy and educated and safe. Let’s work together and have some fun! We’re asking you to create a Bulletin Board or Lesson Plan using Jeffrey Modell Foundation Educational Materials about Primary Immunodeficiency and the Immune System. It’s important for our youth to understand how their body’s work

Once you’ve created your Bulletin Board or Lesson Plan entry, please send a photo and brief explanation of your entry, along with your name and school to info@jmfworld.org by December 31, 2018. On January 7, 2019, all entries will be shared on the Jeffrey Modell Foundation Facebook page, and the submissions that receive the most “likes”, “loves”, and “shares” by January 14, 2019, will be crowned our winners!

Each photo entry will be named and identified by the contestant’s school. Encourage your friends, family, and colleagues to “like”, “love”, and “share” your Bulletin Board/Lesson Plan as many times as you’d like until January 14, 2019, when voting ends.

Winners will be announced and notified by January 16, 2019!

The Jeffrey Modell Foundation will then present Awards of Excellence as well as provide JMF WIN Grants to the top two winners, for use towards school supplies for future Health Education related programs!

We encourage you to be clever, cheerful, and creative! Providing important information to the public in an uplifting manner is what we strive to do! Together, with your support, we can spread awareness, educate young students about these important topics, and help achieve earliest possible diagnosis.

We are pleased to announce the annual Immunoglobulin National Society (IgNS) 2018 Conference Scholarship for Fellows!

Ig National Society will hold its 7th Annual National Conference in Dallas, TX at the Hyatt Regency Dallas on October 18-21, 2018. A multi-disciplinary audience of physicians, nurses, pharmacists, and industry leaders will convene for the annual, immersive Ig therapy conference. Get ready for exciting CE/CME educational sessions, roundtables, symposia, dynamic exposition hall, and enjoy the networking and industry events!

To celebrate the World Cup and spread awareness about Primary Immunodeficiency, we’re creating a bracket contest for the World Cup’s Sweet Sixteen!

A bracket contest is a diagram that predicts winners of a series of games played during a tournament. As you create your bracket, you will predict a winner to advance to the next round, until a final champion prediction is crowned!

Share your soccer knowledge and use the blank bracket below to share your World Cup winner predictions! Select the corresponding 10 Warning Signs of the playing team’s native language to represent your pick for the winner. Ex: Spain vs Portugal would be the 10 WS in Spanish vs the 10 WS in Portuguese

Submit your bracket entry by posting it as a comment to our “When I Grow Up…" World Cup Editioncinemagraph on Facebook by Sunday, July 1 and at the end of the World Cup finals, the entry with the highest score will be awarded a fun JMF prize! Scoring will be based as follows: Sweet Sixteen: 1 point for each correct selection; Elite Eight: 2 points for each correct selection; Final Four: 4 points for each correct selection; Championship: 8 points for each correct selection

Step One: Select and print blank bracket

Step Two: Select the countries you want to add to your bracket, which will automatically have the 10 Warning Signs of that country’s native language

When he was born in September 2015, Hussein El Kerdi looked like a healthy baby boy. No one knew that his immune cells lacked an important enzyme. But the absence of that enzyme would profoundly change the El Kerdi family’s life, sending them on a journey from their small hometown in Lebanon to UCLA. Their one goal: to save Hussein’s life.

Dr. Donald Kohn, a physician-scientist at the Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research at UCLA, has been perfecting a stem cell gene therapy for bubble baby disease for more than three decades. The treatment uses blood-forming stem cells, which have two important properties: They can make exact copies of themselves and they can produce all of the cells that make up the blood system, including immune cells such as T cells.

Now, nearly two years after the procedure, Hussein is healthy and thriving at home with his family.

The Jeffrey Modell Foundation funds nine Melbourne hospitals’ research into Primary Immunodeficiency. The Melbourne-based research centers include The Alfred, the Royal Children’s Hospital, Monash Health, Royal Melbourne Hospital, Monash University, the Burnett Institute and the Walter and Eliza Hall Institute of Medical Research.

WHIM is caused by a mutation in a patient’s C-X-C chemokine receptor type 4 (CXCR4) genes. The objective of the collaborative study is to establish a systematic diagnostic approach for WHIM by combining clinical features and genetic testing. Currently WHIM patients are seen by a diverse group of medical specialists and often go undiagnosed or are broadly classified as patients with primary immunodeficiency disease of unknown origin and/or unconfirmed diagnosis.

World Primary Immunodeficiency Week is celebrated annually, April 22nd – April 29th.We’ve always celebrated World Primary Immunodeficiency Week with a simultaneous launch of thousands of specially designed balloons throughout the United States, around the world, and virtually, stating “If releasing one balloon can help save a life, imagine what one million can do.” Each balloon launched symbolized a newly diagnosed patient.

As always, our goal is to raise awareness, create dialogue and strengthen bonds, globally. So, this year, we have attached “wishes & dreams” to our balloons.Let’s take it one step further and tell the world what we’re hoping for, dreaming of, and wishing for the future.

Let’s make a World Primary Immunodeficiency *wish*… a #worldPIwish!

Each day during the week, we’ll be on the JMF social platforms dedicating a *wish* to the important people in our lives and in our community… and we can’t wait to see you at the JMF Wishing Wells every single day!

Wishing wells, which can be found all over the world, are designed for someone to toss a coin and make a *wish*.There is a whimsical element surrounding sharing a *wish* at a wishing well and we want to share that with all of you.

Fred Modell, JMF Co-Founder excitedly stated, “Last year’s virtual balloon launch reached millions of people in countries around the world, a greater reach than we could have ever dreamed… and this year we hope to continue the momentum and surpass that success and celebrate WPIW in the grandest way possible.”

We’re asking you to dedicate a *wish* on your favorite social media platform… Facebook, Twitter (or both!) and don’t forget to tag who you’re dedicating your *wish* to and use the #worldPIwish hashtag!

What are you going to *wish* for?

"We're asking for the world to celebrate this wonderful community of patients, nurses, physicians, friends, family, and advocates.To help create awareness knowing that many lives will be changed and saved… that’s my World PI Wish" said Vicki Modell, JMF Co-Founder.

Help us surpass last year when we reached 9 million people in 95 countries, with 4.5 million views and thousands of likes, loves, and shares.

We are always looking to support and raise global awareness about source plasma collections, recognize the contributions of plasma donors in saving and improving lives, and increase understanding about lifesaving plasma protein therapies and rare diseases!

”How Is Your Day?” is a global initiative that raises awareness of the plasma protein therapies and the value they provide to patients.It amplifies their voices and draws attention to the unique nature of plasma protein therapies. It focuses on individuals who live with these rare diseases and highlights the life-saving difference that plasma protein therapies make in their lives.

Primary Immunodeficiency, or PI – never heard of it? It is a collection of more than 350 distinct disorders in which babies are born with immune systems that either don’t work right – or don’t work at all.

Severe Combined Immune Deficiency (SCID) is the most lethal from of PI. Sometimes called “Boy in the Bubble” disease, SCID babies will die from unrestrained infections unless they are diagnosed shortly after birth and receive a bone marrow transplant, which most often cures the baby to live a healthy, normal life. Fortunately, there is a newborn screening test that can identify SCID in the first few days after birth.

We have been working since 2009 with the Centers for Disease Control and Prevention (CDC), the Health Resources and Services Administration (HRSA), the US Department of Health and Human Services (HHS) – and the states – to implement newborn screening for SCID nationwide. Today, 49 states, the District of Columbia, Puerto Rico, and the Navajo Nation are all screening for SCID. Only babies born in Indiana are left to fend for themselves.

In June, a peer reviewed manuscript was published in the International Journal of Newborn Screening. At that time there were only two states that were identified as not implementing SCID screening: Indiana and Louisiana. On June 20th, both houses in the Louisiana legislature passed the state budget, which included funding for SCID screening. The budget was sent to the Governor and it has been signed. The only state not screening for SCID is the state of Indiana. Why not?

Because a moratorium on the enactment of new rules imposed by the former Governor and continued by the current Governor has prevented the adoption of the rule that would allow the simple, inexpensive test that would identify these babies at birth.

This is an unconscionable situation. The test costs less than $5.00; it most often leads to a cure through bone marrow transplantation. Without it, babies will endure countless infections, unlimited medical costs, and suffering through their short lives.

Our discussions with Indiana state officials have been met with great compassion – and no action. Our October 23rd letter to the Governor has not been answered. This threat to Indiana’s youngest citizens needs to be addressed urgently, so that every baby born in the state is given the same chance to survive that he or she would receive if born anywhere else in the United States. We call upon the Governor and other state officials to act immediately to address this situation without any further delay.

Vicki and Fred Modell are Co-Founders of the Jeffrey Modell Foundation, named in honor of their son Jeffrey, who died from complications of a Primary Immunodeficiency disorder. The Foundation is based in New York City with research and diagnostic centers world-wide.

New Cellular Therapy Approach for Children with Compromised Immune Systems

Michael Pulsipher, of the Children’s Center for Cancer and Blood Diseases at Children’s Hospital Los Angeles, along with Michael Keller, MD from Children’s National Health System in Washington, DC, have been awarded $4.8 million by the California Institute for Regenerative Medicine (CIRM) to study the use of a new T-cell therapy to help fight active viral infections in children with severe immune deficiencies. In what will be the largest multi-center pediatric clinical trial of this kind to date, investigators will test the feasibility of using “viral specific” T-cells that are engineered to target three common and potentially toxic viruses: Epstein-Bar virus (EBV), cytomegalovirus (CMV) and adenovirus.

Now, a study published on 14 June in Nature finds that fetuses are also acquiring a functioning immune system — one that can recognize foreign proteins, but is less inclined than a mature immune system to go on the attack.

Results add to a growing body of literature showing that the fetal immune system is more active than previously appreciated.

How did you learn about the Jeffrey Modell Foundation? I first learned about the Jeffrey Modell Foundation from a mutual business connection who thought my company and I would be a good fit to create a brand awareness film for JMF’s anniversary gala more than 10 years ago. Little did I know then, that I would be blessed to be adopted into the family.

What aspect of them do you find most special? Dedication... selflessness... commitment... love...As the cliché goes, that is more than just one. To a person, those within the Jeffrey Modell Foundation and the Primary Immunodeficiency Community are the most dedicated people I have been associated with. The word, “community,”is something we all strive to be a part of, andto those who are a part of JMF and PI, it is truly a community... a family united by a cause... and a movement to save the lives of those impacted by PI.

What inspires you? Growing up on the proverbial other side of the tracks in Brooklyn, I would plead guilty to living in my head. Dreaming was my full time pastime. Whether it was the power of music (all things British), the inspiration of the written word (Shakespeare, Hemingway and Stan Lee) or heroic portrayals in movies (Spaghetti Westerns and Hong Kong films), I was transported by these multicultural artists to magical places beyond the four walls of my room where “anything was possible.”Now, as an adult still playing in a creative sandbox, I remain inspired by those childhood sparks to travel to far off jungles and exotic capitals in a quest to portray stories based on little known histories, health breakthroughs, musical artists, unexplored cultures and original screenplays that I have written. Ultimately, to have someone who views our work, be it visual, written or musical to think and to feel.

Favorite Quote: Anything is possible...

Share a little bit about yourself with the JMF community! I am cofounder and creative director at HQ Creative, LLC. HQ Creative is a full service 360 creative and digital agency, with our own in-house production and post production teams. We also produce original content for digital and traditional distribution, with a focus on short form and long form brand storytelling and documentaries. The work of my partner, Cheryl Halpern, and our team has been recognized in countless domestic and international film festivals, world class educational institutions, as well as with an Emmy-Award for a documentary series. In short, I get to think of things and create them with an amazing group of multidiscipline disruptive creatives. My team’s passion and commitment for excellence drive us to go all in, all the time. I am particularly proud of the work we have done for Vicki, Fred and the entire team at JMF. From that first brand film, I could only dream of one day being part of their mission of help save lives. Our collaborative efforts to help spread their message of hope across the globe. I still can’t help but smile each time I am greeted by one of our JMF Kids in an airport billboard. It always makes me feel like I have been welcomed home. I take the greatest personal and professional enjoyment from attempting to expand my creative toolbox on a near daily basis, seeking out that one new morsel of technical, social or cultural knowledge that I had not known one day earlier.

The FILL (Following infants with low lymphocytes) study developed as an offshoot and direct result of newborn screening for SCID and T cell lymphopenia (NBS SCID) in the United States. This study intends to enroll infants who are initially identified during newborn screening (abnormal TREC result on SCID screening) and confirmed by a physician to have lymphopenia. The study will collect data on 200 infants who are enrolled by April 1, 2018. The FILL database was created and is maintained by the USIDNET, through a pilot grant provided by the Jeffrey Modell Foundation to the Clinical Immunology Society (CIS). Patient data can be entered into the FILL Database either by enrollment through an USIDNET center, or through direct physician referral to USIDNET. All patients enrolled in the study have to be consented through an IRB protocol.

We strongly urge you to enroll your patients with T cell lymphopenia identified by SCID newborn screening in the FILL study so that there is evidence-based data to better understand, follow and manage infants with lymphopenia.

How did you learn about the Jeffrey Modell Foundation? Shortly after I joined Immunodeficiency Canada in 2006, Dr. Chaim Roifman, Chair of the Board of Directors, presented an award to Vicki and Fred Modell to honour their incredible commitment to finding a cure and for their contributions towards PI research and education globally. This award was presented at the launch of Immunodeficiency Canada’s Physicians Network taking place in Montreal Canada. Vicki and Fred were encouraging and supportive of this network which is part of the greater Jeffrey Modell Foundation global network of diagnostic and treatment centers furthering research and the care of individuals with Primary Immunodeficiency.

What aspect of the Jeffrey Modell Foundation and the Primary Immunodeficiency Community do you find most special? In the face of daunting challenges and complex diagnosis and treatments, the PI Community is served by dedicated individuals who have committed their lives to others. As the number of identified genetic defects grows to over 300 unique kinds, the Jeffrey Modell Foundation and the greater PI Community adapts and is responsive to these needs. Explaining Primary Immunodeficiency to another person on the street is no simple task. But, with education, patience and simple language the understanding and support for individuals with PI is growing.

What inspires you? Every time I hear of a child or adult diagnosed and able to receive life-saving treatment, I am inspired to do more. At one event, a young girl of four years of age ran up and put her arms around my neck before she ran off to play with the other children. She would not have been there with her family, if it hadn’t been for her diagnosis and treatment. I get to play a part in this.

Share a little bit about yourself with the JMF community! Early in my career, I decided that the non-profit sector was where I belonged. Working with limited resources requires creativity and interpersonal skills to reach your objectives and I like that challenge. I’ve worked in autoimmune diseases at the corporate level, acquired immune deficiency (AIDS) with two community groups, one serving adults and one children, and then when the opportunity to help build a national Primary Immunodeficiency organization in Canada appeared, it was a natural fit for me.

I love living in Toronto with its diversity. My home and garden is not quite downtown, but on the subway line, and not quite in the sub-burbs, something my partner and I call the demi-urbs, -- space for the dog to run around, but still close to everything.

Profession and Location: I am a Partner at Cavarocchi-Ruscio-Dennis Associates, LLC, a Washington DC-based government relations firm.

How did you learn about the Jeffrey Modell Foundation? Actually, Vicki and Fred Modell found me. As they began to consider becoming more involved in working with government agencies (NIH, CDC, HRSA, and the Congress), it was recommended that they speak with me about what my firm does and we hit it off quite well. That was in 1995. The rest, as they say, is history.

What aspect of the Jeffrey Modell Foundation and the Primary Immunodeficiency Community do you find most special? Actually, there are several. First and foremost, of course, are Vicki and Fred who are a total force of nature. Their commitment, dedication, tireless energy, and positive outlook are extraordinary. Secondly, the incredible scientific progress that has been made in the last 30 years has been unparalleled. Finally, I would mention the courage of the families and the patients.

What inspires you? A lot of things. Certainly, everything that is listed in the question above. But, also like many other people, I just can’t stand to see people – especially children – suffer. It is so unfair and often so random.

Favorite Quote: “It was once said that the moral test of government is how that government treats those who are in the dawn of life, the children; those who are in the twilight of life, the elderly; and those who are in the shadows of life, the sick, the needy and the handicapped.” –Hubert H. Humphrey

Share a little bit about yourself with the JMF community! As mentioned above, my firm works closely with the JMF on their interactions with the federal government and we have done so since 1995. During the time I have worked with the Foundation, my two children have gotten married and presented us with five healthy and happy (and really cute!) grandchildren between them.

Michael A. Thatcher, Charity Navigator’s President and CEO has just informed the Jeffrey Modell Foundation that we have received the highest possible 4-star rating from Charity Navigator, America’s largest and most-utilized independent evaluator of charities. The 4-star rating indicates financial health and commitment to accountability and transparency.

This indicates that our organization adheres to sector best practices and executes its mission in a financially efficient way. As per Charity Navigator, “Attaining a 4-star rating verifies that the Jeffrey Modell Foundation exceeds industry standards and outperforms most charities in your area of work.”

Only 27% of the 1.5 million charities have received at least 2 consecutive 4-star ratings.

“This exceptional designation from Charity Navigator sets the Jeffrey Modell Foundation apart from its peers and demonstrates to the public its trustworthiness.”

We are very proud and appreciative to have received this prestigious honor.

How should we measure success? Is it the funds we are able to raise? Is it the return on investment? Is it the data that we collect? Is it the programs that we implement? Is it the number of Centers of Excellence that we establish and support?

We thought long and hard about this, not only as it affects us, but more importantly, how do we measure the 30 year performance of the Jeffrey Modell Foundation?

We concluded that the greatest investment any of us can make is in the lives of others, especially children. The returns are tremendous! The value is unimaginable! The pride is more profound than a billionaire’s bank account or someone’s long list of accumulated assets.

When we are able to profoundly impact upon the lives of newborns and children somewhere in this world, it is not a measurement of how we are doing, but rather a measurement of how the world is doing!

We reach millions of children and their families through the Jeffrey Modell Centers of Excellence led by 600 Expert physicians at 253 academic medical institutions in 206 cities and 84 countries, spanning 6 continents. This Network provides the infrastructure and gives opportunity for more than half the world’s population, accepting referrals for precise diagnosis and effective treatments. Every newborn and every child, can at least have a chance to live a healthy life, enjoy a happy and secure childhood, and reach for their dreams.

And, in the United States, we are giving babies born with a fatal disease, Severe Combined Immunodeficiency – SCID (Bubble Boy Disease) a chance to live a long, healthy and productive life as a result of our newborn screening program. Since we began, 22 million newborns have been screened and the babies born with SCID have been diagnosed, treated and often cured.

We have been blessed to have met many of those children and their families in the United States and throughout the world. We embraced those precious children whose lives were saved and improved by the brilliance of their doctors. We saw tears in the eyes of the children and their parents as they whispered their thank yous to us…to all of us…for making the greatest investment we will ever make in our lives. We should thank them for their courage and the joy and personal gratification we received in helping them.

This is the measurement that tells us the world is doing better! Let’s keep going…

Earlier this year, Ja’Ceon became the first baby at UCSF Benioff Children’s Hospital at Mission Bay to undergo an experimental gene therapy treatment that, doctors hope, will nudge his body to build a new, robust immune system.

The treatment given to Ja’Ceon is the result of decades of research into gene therapy that included a string of striking failures that led many doctors to abandon the pursuit altogether.

Gene therapy long had been considered a potential treatment for severe combined immunodeficiency disorder, or SCID, the condition Ja’Ceon was born with, and some other genetic syndromes.

This study seeks to generate better insights into how to achieve earliest possible diagnosis, using elements and components from the JMCN, the 10 Warning Signs, the 4 Stages of Testing Algorithm, pubic and physician awareness and education, the SPIRIT® Analyzer, and newborn screening.

This manuscript indicates that the data results do not occur by chance, and that there is a better than a 95% probability that the data are valid.

"BPL is pleased to have played a role in the treatment of patients with PI in the U.S. since 2009," saidEric Wolford, PharmD, Vice President of Global Medical Affairs for BPL. "As we developed this new treatment option, it was important that we created a unique study design that would provide new safety and tolerability data for patients and healthcare providers to consider when they choose an IVIG product."

X4 Pharmaceuticals announced the initiation of a Phase 2/3 study for the treatment of WHIM syndrome. The company is developing X4P-001-LD, a low dose formulation of X4P-001 that is currently in clinical development for the treatment of certain cancers, for use as a chronic treatment for patients with WHIM Syndrome.

“We are very pleased with the rapid progress across clinical, regulatory and formulation development that has resulted in X4 initiating this clinical study to evaluate the potential for our CXCR4 drug candidate to treat WHIM syndrome,” said Paula Ragan, PhD, President and CEO of X4. “The initiation of this Phase 2/3 study is a critical milestone in developing a potentially life-changing therapeutic for WHIM patients who otherwise have no therapeutic options.”

“We’re entering a new era of genomic medicine,” said Jennifer Puck, MD, UCSF professor of immunology and pediatrics, a pediatric immunologist at UCSF Health and senior author of the new study. “Our technology has progressed to the point that we can learn a great deal about a disease, and even learn important new facts about normal biology, from just a single patient. In this case we were able to unearth the potentially unique underlying genetic cause of one patient’s disease and come away with brand new understanding of how the immune system develops.”

When did you start working with the JMF? Children’s National started working with the Jeffrey Modell Foundation in 2014. One of our social workers in our Blood and Marrow Transplantation Unit was worried about how we were going to support the basic needs of a family under our care. She heard great things about the Roots & Wings program so she reached out to Vicki. Our social worker was amazed by the generosity, kindness, and responsiveness of the Jeffrey Modell Foundation. A couple months later I had the pleasure of meeting several members of the foundation. I’ve grown to love each and every one of them. When we visit with Vicki, Fred, and Vanessa it feels like we’re with family – we’re bound by a passion and commitment to the most important mission of all – children’s health!

What inspires you? The patients and families we care for inspire me! Kids are so resilient and brave, and their parents are the greatest advocates. They become experts in a disease that was once foreign to them and somehow remain positive in the wake of heartbreaking news. Their determination and love for one another inspire me, as does the clinical team and researchers who are constantly searching for better treatments.

What aspect of JMF do you find most special? Jeffrey Modell Foundation is unique in that it is committed to all aspects of the primary immunodeficiency community – supporting efforts in advocacy, education, research, patient care and support services. JMF recognizes that when a child is sick it affects so many things and the foundation is committed to every child with the disease.

What’s your favorite JMF memory? I love sitting around the Jeffrey Modell Foundation conference room and sharing stories with the team. Vicki and Fred remember every child, every family, and every researcher they’ve met. Their stories inspire our team to do more! I love our time together.

Favorite Quote: “Be the change that you wish to see in the world” – Mahatma Gandhi

Share a little bit about yourself with the JMF community! I have worked at Children’s National for over 6 years now. Before joining Children’s National as an employee I was a patient care volunteer. The hospital feels like home to me. I grew up in Washington, DC and visited the hospital many times as a young child as my dad works there as a cardiologist. Whenever I am there I am reminded of how fortunate I am. That is why I am devoted to improving the lives of the children we treat.

When did you start working with the JMF? I first began working with the Jeffrey Modell Foundation after receiving a Translational Research Award to support my group’s work in adoptive T-cell immunotherapy to combat viral infections in patients with primary immunodeficiency. This award was really instrumental in allowing us to begin several of our clinical protocols.

What inspires you? I really enjoy reading biographies, and am most inspired by those who succeed through hard work and intellect, but can also put aside their ego in order to achieve their goals. Lincoln is a particular hero of mine – I loved “Team of Rivals.” I have also been extremely blessed to have outstanding mentors over the course of my career – Drs. Rebecca Buckley, Kate Sullivan, Jordan Orange, and Catherine Bollard - and I look up to all of them as models of what successful physician-scientists can accomplish in our field.

What aspect of JMF do you find most special? I love the dedication of Vicki, Fred, and everyone at the Jeffrey Modell Foundation to improving the lives of children with primary immunodeficiencies. They are such extraordinary advocates for our patients, both in supporting advances in science and in directly helping our families through programs like Roots and Wings.

What’s your favorite JMF memory? The first time that I heard Vicki and Fred speak about Jeffrey, and about the founding of the Jeffrey Modell Foundation, was at their dedication of the endowed chair position for my mentor, Dr. Jordan Orange. That was really touching and inspiring.

Share a little bit about yourself with the JMF community! When I’m not at the hospital or in the lab, I’m either spending time with my wife and son, traveling, or working out. I’m a lifelong student of several martial arts, which I still practice.

The Jeffrey Modell Foundation celebrated its 30th Birthday in June with a four-day Global Summit in Los Angeles, California. More than 275 world-renowned Immunologists and scientists from 52 countries gathered to share their research, as well as, their expertise in the diagnosis, treatment, and management of Primary Immunodeficiencies.

At the conclusion of the Summit, a Call to Action… a Global Resolution, was drafted and has been signed by hundreds of physician experts.

An international team of scientists led by Dr. Kaan Boztug gained fundamentally new insights into the human immune system by studying a newly discovered mutation, RASGPR1.

Dr. Kaan Boztug, from CeMM Research Institute for Molecular Medicine of the Austrian Academy of Sciences, the Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases and the Medical University at Vienna, is also joint director of the Jeffrey Modell Center for Immunodeficiencies in Vienna, Austria.

What inspires you? In my daily work, there are two main sources of inspiration. The first is the feeling that nothing can be as important as saving a child’s life. That led me more than 20 years ago to start my studies in Medicine and Pediatrics and remains as a leitmotiv running through my mind. The second is the personal need to reach the excellence in my daily practice. It does not matter if we are talking about medical care, research or teaching, I always try to do my best since many people are expecting that from me.

Moreover, my beloved family encourages me to keep on struggling for PI patients and their families.

What aspect of JMF do you find most special? The JMF is not a foundation to me, it is a family and I am so proud to be a little part of it. When I first met Vicki and Fred, I realized that they would do anything they could to help patients with PI and their families independently of the place in the world they were living, their gender, sex or economic status. They will always look for you whatever you may need.

What’s your favorite JMF memory? I have to admit that my favorite JMF memory comes from the dedication day at our center. It was an incredible mix of feelings. I was so proud to show Vicki, Fred and Vanessa our clinics, all the professionals, the patients and their families… and, at the same, time I got really nervous just thinking that something could have gone wrong. At the end, it was a wonderful day that all the people involved in the care of patients with PI will remember during all their life.

Favorite Quote: Doing what you like is Freedom, liking what you do is Happiness

Share a little bit about yourself with the JMF community! I have been a pediatrician for almost 15 years working in the field of infectious diseases and primary and secondary immunodeficiencies. I am so lucky to work with a group of incredible professionals at my hospital. We share our devotion for patients and work as a team to offer our best to patients and their families.

I have lived in Barcelona, Catalonia, since I was born and I love my little country and its history passionately. It is not surprising that I love the sea and if I could just ask for a single moment in my life, I would choose sharing a good dinner beside the sea with my family and friends.

UCLA’s Mattel Children’s Hospital recently shared an article, reinforcing the ideology that Primary Immunodeficiency is more common than previously thought. This is why it’s so important to know the 10 Warning Signs and to stay informed.

At JMF, our mission is to spread awareness and educate everyone about Primary Immunodeficiency. What better time than “Back to School” to do just that!?

With the new school year approaching many students and their parents make sure to prepare with new notebooks, new clothes, and new pencils. A new school year means new teachers and new classmates. Meeting new people can be exciting and scary all at the same time.

For children and teenagers with Primary Immunodeficiency, this means there is a new group of people to share their diagnosis with... and JMF is here to help you explain PI!

Whether it’s the 10 Warning Signs, Facts & Questions about Primary Immunodeficiency, or the Immune System – teaching classmates, teachers, school nurses, and other school personnel is helpful for everyone!

Remember, school is a place to learn… and the teachers don’t have to be the only ones teaching things!

You can find all of our educational materials online and by sharing them with your new friends, you can help achieve earliest possible diagnosis and save children's lives!

This school year, make sure to educate your new teachers and classmates all about Primary Immunodeficiency!!

We are excited to share our “When I Grow Up” PSA Campaign extension, featuring infants and expressing the importance of Newborn Screening for Severe Combined Immune Deficiency (SCID). Often to referred to as "Bubble Boy Disease", SCID is the most serious form of Primary Immunodeficiency, in which infants fail to develop an immune system. Undetected and untreated could die before their first birthday, but with Newborn Screening, they can be diagnosed and cured! These infants and their families now have an opportunity to turn tears into laughter, and fears into wonder.

While this topic is very serious and this condition can be fatal, our new PSAs focus on the hope and optimism that Newborn Screening provides, and showcase that when properly tested, diagnosed and treated, all infants have the chance to be, to dream, and to live a full and healthy life!

Using the same sentiment of “When I Grow Up”, these ads speak to the importance of screening newborns for SCID. Providing important information to the public in an uplifting manner is what we strive to do!

This screen allows babies to be diagnosed, treated and in some cases cured; the chance to grow up healthy, and the opportunity to “be” and dream of their future! We are proud to introduce you to Lily, Andy, Cassie, and Jake!These new PSA’s will be circulating around the country on Television, Radio, Airports, Magazines and more! We can’t wait for you to experience the magnificent and informative message these PSA’s provide, and we know you’ll love them as much as we do!

..And remember, if you see our PSA’s when you’re out and about, take a photo and share it with us on Facebook or Twitter using the #JMF and #Spotted hashtags!

Chronic Mucocutaneous Candidiasis often results from an underlying immune deficiency that leads to abnormalities in a person’s control of fungal infections such as candida. Investigators at NIAID are seeking people with chronic mucocutaneous candidiasis (oropharyngeal, esophageal or vulvovaginal candidiasis) that are refractory or intolerant to standard non-intravenous therapies to participate in a clinical research trial. For additional information please contact Dr. Alexandra Freeman (freemaal@mail.nih.gov) or see https://clinicaltrials.gov/ct2/show/NCT02629419.

The cost of genetic testing has plummeted. Yet it is still out of reach for thousands of patients and their families.

Invitae, a San Francisco based biotech company, recently addressed this problem by announcing an expansion of genetic tests for more than 60 pediatric disorders, including Severe Combined Immunodeficiency (SCID) and related T cell Lymphopenia. With this expanded test menu, Invitae will be able to provide clinicians, patients, and payers with high-quality genetic information for a greatly expanded number of genes and disorders, all at the same price and with rapid turnaround time. The new panels will be available immediately to children’s hospitals, pediatricians, and medical genetics professionals for clinical diagnosis and care.

According to CEO Randy Scott, “Invitae is aggregating a large number of genetic tests into a single platform. Today, labs test patients gene by gene. That gets expensive when the patient has a multi genetic disease or a set of symptoms caused by a variety of genetic conditions. Historically, just a single gene test is in the $1,000 range. We look at up to 1,000 genes, which gives improved economics. We hope to one day become the Amazon of genetics.”

Most “in network” tests are available at $950 for the entire menu. For patients without insurance, the testing menu is offered for $475 when the clinician orders the tests. The highest price for genetic tests is $1,500 for out of network providers.

“This development is pointing to the day when we can very quickly test newborns for any genetic condition that might put them at risk early in life,” according to Dr. Robert Nussbaum, Invitae’s Chief Medical Officer, who is a practicing medical geneticist at UCSF.

He added, “Having seen so many parents searching tirelessly for answers for their children suffering from pediatric and rare conditions, my colleagues and I at Invitae are excited to be able to provide comprehensive, high-quality tests at prices that families can afford. Often a genetic test can provide these parents with definitive answers as to what is happening with their child, and the sooner we can get these answers, the more management options become available to the patient and the family. This can make all the difference to a child’s health and quality of life, and to a parent’s peace of mind.”

Once again, our dear friend Steve Bursley is bringing awareness about Primary Immunodeficiency in a new and exciting way.

Every year, Steve participates in his traditional “One Tough Ride”, a 508-milenon-stopbicycle race, dedicated to his son Nicholas who has Primary Immunodeficiency. Along with his cycling team, the Racing Roosters, Steve is an amazing athlete who has participated in endurance bicycle races all around the country!

Steve’s devotion to his son, Nicholas and his passion to bring attention and support to the PI Community is inspiring.

However, recently Steve and the Rooster Racing organization shared an idea that has truly touched everyone at the Foundation. They expressed that in an effort to continue to raise awareness about PI, they decided to honor Jeffrey’s Foundation by creating a special edition Rooster Racing JMF Edition cycling jersey!

We are so excited about the opportunity to have Jeffrey’s name be worn as a “Badge of Honor” by someone whose friendship we are so grateful for and whose passion inspires us!

The jersey is spectacular and features JMF logos and signature burgundy color! Our message of “Hope. Advocacy. Action.” can now be worn by athletes and participants everywhere to help spread awareness and educate the public about PI!

We are so touched and honored by Steve’s passion and invaluable contributions to support PI patients everywhere!

We are thrilled to announce that we have just launched three brand new PSAs! The new creative continues to highlight the importance of early testing, detection, and diagnosis of Primary Immunodeficiency. Test, Diagnose, Treat…

Building on the success of our original campaign, we are proud to welcome Olivia, an enchanting ballerina, Ben, a determined doctor, and Sam, a passionate teacher, to the “When I Grow Up” family.

Co-Founder Vicki Modell shares, “Fortunately we have been able to reach thousands of families across the country with our “When I Grow Up” Campaigns, and our newest PSAs contain an emotional element that is sure to resonate with the public to help achieve earliest possible diagnosis and save children’s lives.”

Education and awareness are part of JMF’s mission. One of the most successful ways we achieve this is through our PSA Campaigns. Providing information about PI to the public in a creative and uplifting manner, is what we strive to do!

These three new PSA’s will be circulating on Television, Radio, Print, Malls, and Airports! We can’t wait for you to experience the magnificent and informative message these PSAs provide, and we know you’ll love them as much as we do!

..And remember, if you see our PSAs when you’re out and about, take a photo and share it with us on Facebook or Twitter using the #JMF and #Spotted hashtags!

An international research team sequenced genomes of children from two families in Kuwait and Saudi Arabia affected by a genetically undiagnosed form of combined immunodeficiency (CID), a serious disease in which combined deficiency of T and B lymphocytes can lead to life-threatening infections1.

Dr. Raif Geha, Chief of Allergy, Immunology, Rheumatology & Dermatology at Children's Hospital Boston expresses “The surprising finding was that red cell development, which is known to be dependent on TfR1, was relatively well preserved.”

Evangelina Padilla-Vaccaro, was born with ADA-deficient SCID and underwent a new gene-therapy treatment developed by Dr. Kohn that aims to restore the immune systems of children with ADA-deficient SCID using their own stem cells.

Evangelina is 1 of 18 children who have been cured after receiving the therapy in clinical trials.

Dr. Kohn is currently working with the FDA to make his treatment available nationwide. He's also testing the same method as a cure for sickle cell disease. Clinical trials for that treatment are now underway.

Dr. Kevin Strauss of the Clinic for Special Children shares a tale of three sisters and offers a glimpse into how, with the right systems in place, genomics research can already be applied to alleviate human suffering.

A study led by the University of Utah School of Medicine has identified molecular mechanisms that control an immune cell’s ability to remember. They found that in helper T (CD4+) cells, the proteins Oct1 and OCA-B work together to put immune response genes on standby so that they are easily activated when the body is re-exposed to a pathogen. The research, which could inform strategies for developing better vaccines, was performed in collaboration with scientists from The Broad Institute and University of Michigan, and published in The Journal of Experimental Medicine.

It is estimated that many Americans will get a late diagnosis at least once in their lives. Many times, these people have Primary Immunodeficiency.

The most important goals of the Jeffrey Modell Foundation is educating the public, spreading awareness, and helping bring earliest possible diagnosis to patients.

Over the last several years the field of immunology has grown! The Jeffrey Modell Foundation has translated educational materials in over 45 languages and the understanding of PI has greatly advanced with the discovery of new defects and treatment options.

However, there is never a point at which we stop teaching, researching, learning, and advocating! Educating the public about Primary Immunodeficiency is so important, and this includes physicians as well!

We live in a world where we are learning new things every day! It is important to remember that while our physicians are brilliant, capable, and special… they too live in a world where new information is discovered everyday!

Jeffrey Modell Foundation educational materials teach the public about the 10 Warning Signs of Primary Immunodeficiency, the 4 stages of testing, and the components that make up our Immune System – both for children and adults!

In the past we have teamed up with the National Association of School Nurses to help them identify students with possible PI, as school nurses are usually the first medical professional young children visit when they are not feeling well.

The next step after a patient visits a school nurse, would be visiting a primary or specialty doctor. This is why we are excited to share our educational toolkit for specialty doctors!

The clinical presentation of PI can be diverse. However, there are symptoms that can appear in specific organs and systems that could lead to PI suspicion. It is important for physicians to be knowledgeable so they can recognize potential warning signs of Primary Immunodeficiency.

Most people do not visit an immunologist when they are first coming down with something. This is why educating all doctors, pediatric or adult; whether they work in a hospital, a private practice, or make home visits, is important and helpful for everyone!

The Jeffrey Modell Foundation is excited to share a “Diagnostic Algorithm for Specialty Care Physicians”, available in English, Spanish, and Portuguese! Created by Expert Immunologists Dr. Juan Aldave from Peru and Dr. Beatriz Carvalho from Brazil! Sharing this toolkit with physicians may help avoid late PI diagnosis and provide patients with the opportunity to receive appropriate treatment sooner!

Many PI disorders are treated with Immunoglobulins, either intravenously (IVIG) or subcutaneously (subQ) – but do you know what Immunoglobulins are?

Together, let’s begin to explore the basic understanding of what Immunoglobulins are, and the role they play in our immune system!

Immunoglobulins, or antibodies, are Y-shaped glycoprotein molecules proteins produced by white blood cells known as B cells or B lymphocytes to recognize and bind to specific antigens.

This immune function is produced as soon as an antigen, a foreign substance or toxin, enters the body. When the immune system lacks these proteins, the affected individual is vulnerable to infection. This is what happens to many patients with PI.

Immunoglobulins are produced in 5 different varieties: IgA, IgD, IgE, IgG, and IgM.

Immunoglobulin A (IgA) plays a role in the immunity of mucous membranes from invasion by potentially pathogenic microbes. IgA helps protect your nose, ears, eyes, lungs, and more!

Immunoglobulin D (IgD) helps signal for the activation of B cells in the event that an immune defense is needed. IgD is produced in a secreted form that is found in very small amounts in blood serum.

Immunoglobulin E (IgE) plays a role in the immunity of parasites.

Immunoglobulin G (IgG) is found in blood and extracellular fluid (body fluid that is not contained in cells) allowing it to control infection of body tissues.

Immunoglobulin M (IgM) is the first antibody to appear in response to initial exposure to a foreign substance or toxin, like bacteria, viruses, parasites, or fungi. IgM is the largest antibody in the human circulatory system and is produced in the spleen.

Sometimes it may be tricky to remember the 5 different kinds of Immunoglobulins, but we’re going to teach you a helpful tip! If you rearrange the letters that identify each Immunoglobulin (IgA, IgD, IgE, IgG, IgM) you can spell the word GAMED!

When someone has PI, their body doesn’t always produce the necessary levels of Immunoglobulins to help their Immune System fight off infections. Through IVIG or subQ, PI patients are able to raise their Immunoglobulin levels.

This is why being a blood or plasma donor is so important! Immunoglobulins are found in the plasma of your blood. The Immunoglobulins taken from a donor are then turned into lifesaving treatment!

Dr. Bobby Gaspar, Professor of paediatrics and immunology at the UCL Institute of Child Health, explains the importance of Newborn Screening for SCID and how babies who have been identified have the opportunity at a full and healthy life.

16 year old Pakistani Raffay Ansari has set entrepreneurial record with his experience and earnings despite facing a rare disease.

Raffay is a self-taught programmer and has earned several thousand dollars freelancing online, coded games that have attracted about 8 million cumulative downloads, and is now on the brink of launching his own startup.

Raffay has Ataxia, and states “The disease is more of a gift to me. As I can't sleep much at night, I utilize the time learning new things instead.”

Specifically, people with CVID have increased occurrences of pneumonias, sinusitis, influenza, and gastrointestinal inflammation. CVID is diagnosed by measuring for low serum IgG, and sometimes reduced concentration in IgA and IgM.

CVID comprises a heterogeneous group of diseases of the immune system.A research group led by Dr. Fliegauf and Prof. Dr. Bodo Grimbacher, Scientific Director at the Centre for Chronic Immunodeficiency (CCI) at the University Hospital Freiburg, working on the identification of molecular mechanisms that lead to the reduced antibody production.

Read more about Dr. Fliegauf and Prof. Dr. Bodo Grimbacher’s research here.

Newborn Screening is a public health activity used for early identification of infants affected by certain genetic, metabolic, hormonal and/or functional conditions. This course covers screening for 29 heritable disorders and genetic diseases performed through dried blood spot testing. Now includes content on SCID!

We are always motivated to continue our mission of earliest possible diagnosis, but having our website recognized is a treat for us and the PI Community! We do what we do for the Community, and we are so happy that other industries and associations recognize us as well.

We are thankful for our creative and technology agencies, CDMi Connect and Rehab Studio. Together we built a home base where the Primary Immunodeficiency Community can connect with other patients, families, nurses, physicians, researchers and patient organizations, as well as find resources to spread public awareness, further physician education and maybe save some precious lives.

Education about Primary Immunodeficiency is one of the most important aspects of the JMF mission. We have made it our duty to make sure that people all over the world are properly educated about PI and the Immune System.

You may already be familiar with the JMF “Immune System Boy” Poster. This is our educational illustration of how our Immune System works, and it is available in many different languages.

As we age and grow up, so does our Immune System and it’s important to know what those changes are!

Thanks to the amazing progress in PI research and treatment, patients with PI are living longer, fuller, and happier lives! And now we have a brand new educational poster to join our library.. introducing the JMF “Immune System Man” Poster!

Currently, this poster is available in English and Dutch, but we plan on expanding on that as well!

Advocating for newborn screening for SCIDis a huge part of our mission.

Early diagnosis saves lives, and we are dedicated to completing mandatory screening for Severe Combined Immune Deficiency (SCID) in all 50 states, and then around the world!

Every day we take preventative measures to help ensure safety; Newborn Screening for SCID is exactly the same. This September, for Newborn Screening Awareness Month we want to spread just how important a simple test can be – after all, it saves babies!

When it’s winter time... It’s important to wear a warm jacket

When you ride your bicycle... It’s important to wear a helmet

When you’re exercising... It’s important to stay hydrated

When you’re at the beach... It’s important to wear sunscreen

When there’s a test that can save your baby’s life... It’s important you have them tested. Newborn Screening for SCID... It’s important!

T cells are the guardians of our bodies: they constantly search for harmful invaders and diseased cells, ready to swarm and kill off any threats. A better understanding of these watchful sentries could allow scientists to boost the immune response against evasive dangers (e.g., cancer or infections), or to silence it when it mistakenly attacks the body itself (e.g., autoimmune disorders or allergies).

Now, scientists at the Salk Institute have discovered that T cell triggering relies on a dynamic protein network at the cell surface, as reported in August 3, 2015, in Nature Immunology.

The World Health Organization (WHO) conducted a two day meeting with partners all dedicated to global Polio eradication. A report of the first 18 months of the study confirms that individuals with a diagnosis of Primary Immunodeficiency (PI), exposed to oral Polio vaccine (OPU) are at greater risk of shedding the virus into the community.

In addition to JMF, the Bill and Melinda Gates Foundation, US Centers for Disease Control and Prevention (CDC), and the Task Force for Global Health, and expert immunologists were in attendance and reported on early results.

Some of the possibilities developed at the meeting included;

Continuation of enrollment

Expansion of additional sites to include not only low and middle-income countries but high-income countries as well

Expansion of the patient criteria

Public awareness and community outreach programs to help address risk reduction

Public Health outreach to government health ministries to drive early diagnosis through the JMF 10 Warning Signs and other educational materials

Vicki Modell, Co-Founder of the Jeffrey Modell Foundation stated, “We were very impressed with the hard work and serious purpose of all of our partners at this meeting. We are thrilled with the progress of this program in such a short time and we are grateful to all of the participants. We are now poised to move this study to public health implementation. We are honored to be a part of this historic undertaking.”

JMF’s Scientific Director, Jessica Quinn, MPH shared “Studying how PI patients react to the Polio vaccine is a key element in helping eradicate the virus worldwide. We are honored that the Jeffrey Modell Centers Network is able to work alongside such wonderful organizations, and we hope that together, we can bring this eradication to reality.”

BBC’s “Fix My Genes” follows three children from Great Ormond Street Hospital in London, as they prepare for bone marrow transplants.

The documentary follows 5 year old Herb, who has Nemo Syndrome, 9 year old Keano, who has Congenital Neutropenia, and 10 year old Teigan, who has SCID, along with their families and their doctors as they take this journey to obtain a better quality of life.

Watch the program here. Please note that some footage may be difficult to watch.

FOLLOW UP!

When the camera stopped rolling, 11 year oldTeigan, received pioneering gene therapy that could save her life.

Now, six months on, Teigan is out of hospital and enjoying life with her friends and family, who are keeping everything crossed that the therapy which will help her battle infections has been a success.

Her mum Claire Reid, 35, said: “Teigan is doing really well at the minute. She’s at home and having great fun being outside with her friends. She’s a lot better than she has been in a long time. We won’t know until September whether the gene therapy has worked so, at the minute, we are playing the waiting game. At this stage, all I can say is that we’re hopeful it has been a success.”

The Centers for Disease Control and Prevention (CDC) has again awarded funding to the Jeffrey Modell Foundation (JMF) to continue the Foundation’s precedent-setting Physician Education and Public Awareness Program for Primary Immunodeficiences (PI).

The funding, which is in excess of $920,000, represents the fourth year of a five-year competitive grant award of $5,000,000 made by the CDC to the Foundation in 2012. The funding has been used to advance a number of public health purposes, including scientific symposia, publication of materials for physicians, patients and their families, and the production of television, radio and other public service announcements.

The mission of the Office of Public Health Genomics, the organizational unit within CDC that oversees the grant, is to identify, inform about, and integrate genomic applications that can save lives. The JMF grant clearly supports that important mission.

“The Jeffrey Modell Foundation is delighted to continue working with CDC. They have been a great partner in our efforts to stress the early and accurate diagnosis of PI and we look forward to continuing to partner with them into the foreseeable future,” said Vicki Modell, the Co-Founder of the Jeffrey Modell Foundation."

JMF and Pfizer’s Centers for Therapeutic Innovation (CTI) will work together to conduct research in the field of immunological diseases.

JMF Co-Founder Vicki Modell states “We are excited about the opportunity to collaborate with Pfizer as we broaden our commitment to make a world of difference in the lives of patients with immunological diseases.”

An analysis of five families has revealed a previously unknown genetic immunodeficiency.

The condition, linked to mutations in a gene called DOCK2, deactivates many features of the immune system and leaves affected children open to a unique pattern of aggressive, potentially fatal infections early in life.

Research led by Kerry Dobbs and Luigi Notarangelo, M.D., of Boston Children's Division of Allergy and Immunology—reported that DOCK2 deficiency may be detectable bynewborn screeningand may be curable with a hematopoieticstem cell transplant(HSCT).

In a world first,scientists have captured on video each stage of death of a human white blood cell, a phenomenon never seen before and which reveals the cells apparently try to alert their immune system allies that they are dying.

Dr. Ivan Poon, co-lead researcher and a biochemist at La Trobe University in Melbourne, Australia, said the discovery may help scientists better harness the body’s own defense and healing mechanisms, leading to improved treatment for diseases.

The Jeffrey Modell Foundation and ADMA Biologics have joined together to create a new PI Patient Advocacy Alliance!

Vicki Modell, Co-Founder of the Jeffrey Modell Foundation welcomes this new Alliance saying, "We are proud to work with ADMA Biologics. We believe in their mission, and in the potential for this work to change the lives of so many individuals. We are optimistic and hope to bring our energy and our commitment to this collaboration."

The Council of Europe has officially and permanently listed immunoglobulin treatment on its “essential medicine” list. This is the first ever pan-European strategy aimed at optimizing the treatment and care received by patients with immunodeficiencies and other disorders where IG is used as treatment.

Children with Wiskott-Aldrich syndrome appear to have been cured, after receiving a new form of gene therapy, at Great Ormond Street Hospital in London, England.

Doctors said the findings marked a turning point for gene therapy and could pave the way for similar techniques being used for more common conditions.

Prof Adrian Thrasher, the Immunologist who led the work, said: “This is a very powerful example of how gene therapy can offer highly effective treatment for patients with complex and serious genetic disease. It also excitingly demonstrates the potential for treatment of a large number of other diseases for which existing therapies are either unsatisfactory or unavailable.”

COPA syndrome is a genetic condition that can vary in severity. If a person inherits the mutated gene, the disease will usually present itself in childhood and typically involves both lung disease and arthritis.

Tell us about how you learned about JMF and World PI Week! I met Vicky and Fred many years ago in Geneva and have followed their incredible efforts to build what JMF now means worldwide, including the World PI Week.

Profession and Location: I am a Professor of Immunology working in Madrid, Spain, at the Complutense University and the Hospital 12 de Octubre Research Institute. I happen to be the Head of the Department of Immunology there, and also the President of the Spanish Society for Immunology.

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What inspires you? The need to understand primary immunodeficiencies (PID) and how what we learn can in turn help patients and their families, and change our view of the immune system. Every new case is a professional challenge, but I never forget the human factor: I try to think on the patient first.

What does World PI Week mean to you? It is a time to raise awareness for PID and to celebrate how far we have reached in our understanding of their causes and what that means to patients in terms of prompt diagnosis and treatment.

What’s your favorite World PI Week memory? Last year we launched balloons with friends, students, colleagues, patients and their families. It was a magic moment, all of us looking upwards in hope of a better future, particularly for underdeveloped countries.

Favorite Expression: Put an immunologist in your life.

To Sum Up! My first contact with PID was a patient called Victor back in 1985, who presented with an extremely rare disorder which turned out to be the first T lymphocyte-specific PID to be molecularly characterized (CD3gamma deficiency). Meeting Victor changed my view of Immunology. Thirty years later, I still keep in contact with his family. Along the way I met several top-notch researchers from all over the world, such as Cox Terhorst, Balbino Alarcon, Fred Rosen, Max Cooper, Alain Fischer, Gigi Notarangelo, Chaim Roifman, Wolfgang Schamel and Jean-Laurent Casanova. I feel honoured to be a small part of the PID community, and to be helpful for patients and colleagues from all over the world.

Tell us about how you learned about JMF and World PI Week! The Royal Victoria Infirmary is one of 3 Jeffrey Modell Diagnostic and Research Centre for Primary Immunodeficiencies, here in the UK so our frequent contacts meant we were well aware of this important opportunity.

What inspires you? Understanding the biology of PIDs is fascinating and working with children is very rewarding, but when you put these two aspects of medical care together I am completely captivated! It is simply such an amazing privilege to use our rapidly growing knowledge of these diseases to enable children to have normal exciting fulfilled and happy lives when previously they could only expect worsening debility, ill health and for many an early death.

Whatdoes World PI Week mean to you? Our daily work with PID patients, their families and our network of specialists, is rewarding but challenging. WPIW encourages us to focus on the goals of our centre and there is a strength in sharing this week promoting PIDs with a global network, knowing collectively we are all championing the same cause. Through WPIW activities we have been able to raise interest in PID across the north of Britain and Ireland amongst Paediatricians and Physicians. We feel being part of this unique network ensures 30 million people have closer access to diagnosis and bespoke care for PID.

What’s your favorite World PI Week memory? Here in Newcastle we held a networking event as part of World PI Week in 2014. This event brought together doctors and nurses from 6 medical institutions across the north of the UK. The new concept of bringing together our peers in this way was very exciting as we could discuss puzzling cases in depth and draw in cases and hospitals who had not been involved before. This has enhanced our network of outreach PIC clinics in Scotland, Ireland, Manchester, Leeds and Sheffield so that have a much more mature and robust way to disseminate knowledge and expertise.

Favorite Quote: “Together we can do the impossible!”

To Sum Up! I have been a doctor for over 35 years and after working in the field of internal medicine and infectious diseases, I “crossed the floor” to paediatrics and immunology some 30 years ago. It has been wonderful to work with a group of patients where you can make such a difference, helping on the “upward slope” to healthy well being. I have always wanted to know the answer to “why”, “what if”, “what would happen if” and “why couldn’t we try this” so I love the mix of looking after patients and trying to find out more about the conditions they suffer from, and better ways of curing them. This is such an exciting time with so many new research findings that make a real difference to patients, so I remain the excited curious little boy at heart! I live in the far north of England amidst beautiful countryside and close to some spectacular coastline, so it isn’t surprising that I love the outdoors, hiking, walking biking and running. I also greatly enjoy music and history, and am very fond of Scotland where most of my family live.

The Journal of the American Society of Hematology (ASH), Blood, has reported that children with SCID who undergo gene therapy have fewer infections and hospitalizations than those receiving stem cells from a partially matched donor.

The research is the first to compare outcomes among children receiving the two therapeutic approaches and provides additional options for patients without a fully matched stem cell donor.

To understand the function of Immune System order to treat patients with Primary Immonodeficiency aetiologically.

The improvement of quality of life of patients’ with Primary Immunodeficiency and their families

What does World PI Week mean to you?

The increase of awareness for early diagnosis of Primary Immunodeficiencies

The improvement of quality of life of patients’ with Primary Immunodeficiency and their families.

What’s your favorite World PI Week memory? I can speak only for events in Greece and my favorite one was a concert with Symphony Orchestra of Athens in 2011.

Favorite Expression: Awareness! Test. Diagnose. Treat.

To Sum Up! I admire Vicki and Fred. As they say: ”their son, Jeffrey, changed their lives forever, along with the lives of thousands of people he would never meet”. I feel member of JMF community and I have memories of many of JMF important scientific symposia. The celebration of 25th anniversary was the most significant one!

Tell us about how you learned about JMF and World PI Week! When I began to work with the LAGID members I received the information about the excellent job of Vicky and Fred and their help to diffusion of PID and the work about PID and research of immunologist physician.

An active member of LASID I learned of World PI Week and My team and I work together in my country to do the diffusion about it.

What inspires you? I want to help my patients and their family and to do the diffusion of PID in Argentina because I know exist more PID in my country without diagnosis and their need to do it.

What does World PI Week mean to you? The opportunity to teach and to do the diffusion of PID. To also accompany our patients and family so they do not feel alone.

What’s your favorite World PI Week memory? The last year was the favorite for me

Favorite Quote: The PID are important diseases that compromise the health but with the early diagnosis and the treatment they can live in health

To Sum Up! My team and I work hard to help our patients for their diagnosis and treatment and to do the diffusion of PID in Argentina. We do the different activity to teach about PID in the medical community and to help the patients and their family to understand about their diseases and the important their receive the treatment.

You can see our activity in the facebook page and the testimony of the patients: Inmunodeficiencias Primarias en la Argentina. Dra. Bezrodnik y equipo

In yoube to you can see: "el maravilloso mundo del señor SI". I wrote the story "El señor SI" (señor sistema Inmune)

The Jeffrey Modell Foundation is elated to announce that the Global PI Village® has won “Outstanding Website” in the Internet Advertising Competition (IAC) run by the Web Marketing Association!

The IAC Awards provides an opportunity to highlight the best online advertising in 96 industries and 9 online formats including, online ad, video, mobile, newsletter, email and social media.

Along with the extraordinary talent of our creative and technology agencies, CDMi Connect and Rehab Studio, we have been able to create a virtual home; an inviting place where we are able to help the Primary Immunodeficiency community connect with other patients, families , nurses, physicians, researchers and patient organizations, and provide resources to spread public awareness and further physician education.

Receiving this honor only further motivates us to continue our mission of earliest possible diagnosis!

We are so proud to be recognized as the number one resource for Primary Immunodeficiency information. This Award is dedicated to you, the PI Community as you continue to inspire us each and every day!

Tell us about how you learned about JMF and World PI Week! Ten years ago I started working for Dr. William T. Shearer as his administrative support. While working in his office on the avalanche of e-mails, I received an e-mail from his very dedicated Allergy and Immunology Clinic team, they were putting together a “JMF Kids Day” and needed volunteers. Being new and wanting to get involved in “office” activities, I signed up to volunteer. I didn’t know what this day was about, where it originated or who it was for. I knew this day was for our patients and help was being requested, which was all I needed to know. Once I was onboard, I started asking question and was very touched by the answers I was given. What a beautiful act of kindness and generosity did Fred and Vicki Modell provide for children and families they don't know. I was given the opportunity to participate in a day when a child and parent are worry free for a day, I saw how excited the patients were to attend the outing with their loved ones (and loved health care providers) and they shared their special day with other children that know what each other is going through; what an eye opener!

Three years ago, the Allergy and Immunology Service was very fortunate to have Dr. Jordan S. Orange join the Texas Children’s Hospital family as the new Service Chief. He didn’t bring any cold weather with him, instead he brought a Texas size vision on what we can do to improve our patient care in all aspects- clinical, administrative, research and outreach; not only for the Texas Children’s Hospital patients, but to the entire southeast region of Texas and beyond.

The Immunology, Allergy and Rheumatology Service celebrated our first World PI Week April 2013. We had a great turn out, Dr. Orange gave some brief remarks, and we released our balloons, a delightful event. However, the following year, we had bubbles and balloons and cake! All of this brought out the kid in us, we had an even bigger turn out, an ex-patient and current patients! Keep sending the bubbles!

On Friday, August 23, 2013, we had the honor of being named a Jeffrey Modell Diagnostic and Research Center, where I met Mr. and Mrs. Modell. Unfortunately, I was too caught up in the whirlwind of event details (typical administrative coordinator disease) to stop and tell them how admirable I think their work is. Thank you Mr. and Mrs. Modell.

What inspires you? On a professional level, the entire Immunology, Allergy and Rheumatology Service. On a personal level, my family and faith.

What does World PI Week mean to you? The opportunity to reach out and educate at least one person on the importance of this mission.

What’s your favorite World PI Week memory? On a beautiful day in April 2014 the Immunology, Allergy and Rheumatology Service gathered to kick-off, World PI Week. Joining us was a former immunodeficiency patient, now a doctor at Texas Children’s Hospital and a current young patient. What better proof did we have in front of us to see how far we have gotten and what more we can offer our new patients. Together we all stood, blowing bubbles with smiles on our faces and releasing hope and awareness to the world.

Favorite Quote: “Where there is a will, there is a way.” While this may not be the most inspiring quote, I apply it to my everyday life. It helps me look past obstacles and focus on solutions.

To Sum Up! My name is Ruth Herrera, I was born and raised in Omaha, Nebraska. I moved to Houston 11 years ago and had the good fortunate to work for Dr. Celine Hanson at the Texas Department of Health. One thing led to another and I found myself working at Texas Children’s Hospital for amazing people.

True to my culture, I’m always surrounded with family. We travel, shop, and gather frequently. On my down time, I enjoy reading.

Norway recently announced that it will be mandating nationwide newborn screening for Severe Combined Immune Deficiency (SCID), becoming the first European country to commit to implementation! Initially this will be a pilot program, prior to universal screening.

SCID is a group of disorders characterized by little or no immune response. Also known as the “bubble boy” disease, infants with SCID are highly susceptible to severe bacterial, viral, and fungal infections.

SCID is fatal in the first 2 years of life if not treated with hematopoietic stem cell transplantation or gene therapy. However, there is a 95-100% success rate of survival for affected babies transplanted in the first three months of life.

With an annual birthrate of ~58,000, Norway’s decision provides protection for the world’s most precious resources – babies.

In June of 2014, The Jeffrey Modell Foundation dedicated a Jeffrey Modell Diagnostic and Research Center in Oslo. In attendance at the commencement ceremony, were Immunologists and government officials who gathered to support the importance of physician education, awareness of PI and Newborn Screening for SCID.

Dr. Tore Abrahamsen from Oslo Children’s Hospital, together with Sveinung Stensland representing Norway’s Health Ministry and several passionate patient families were instrumental in this historic initiative becoming a reality!

In the wake of this exciting new development, Dr. Jennifer Puck, UCSF Jeffrey Modell Center Director and newborn screening expert said “Now with the leadership of Norway, other countries in Europe must recognize that this lifesaving SCID newborn screening is "ready for prime time" and must be implemented in all other countries.”

Kentucky, with an annual birth rate of 55,000+ is one of the few states where infants are not routinely screened for the disease, and have no plans for implementation!

Phoenix, a Kentucky-born baby with SCID, was fortunate enough to be diagnosed and treated by the doctors at UCSF, and is nowback at home and doing great. KQED covers how important Newborn Screening for SCID is, in order to obtain earliest possible diagnosis and available treatment options.

The typical therapy for this inherited disorder – a bone marrow transplant to rebuild his immune system – presented a major hurdle.

"There are 25 million people registered in the world to be bone marrow donors and unfortunately none were a suitable match to Kini," said one of his doctors, Tracey O'Brien, the Head of Bone Marrow Transplant at the Sydney Children's Hospital in Randwick.

To save the little boy, his doctors decided to try a complicated procedure that had never been attempted for this condition in Australia. Using his mother's bone marrow as a base, the team fashioned Kini a new immune system.

Arecent study, revealed that genetically engineered T-memory stem cells (TSCM) can last more than 12 years in patients’ bodies, and can continually generate appropriate T-cell armies for them, says an innovative study looking at two historic clinical trials.

It was known that mature human memory T-cells could persist—if no one knew for how long. And it was theorized thatrecently discoveredhuman TSCM cells could persist—if again, no one knew for how long.

What inspires you: I had the pleasure of unexpectedly meeting Vicki and Fred Modell this past summer. I was introduced to the Modell’s through a mutual friend, while we were eating out at an Italian restaurant in New York. I immediately connected with Vicki and Fred on both personal and professional levels. Their lifelong journey and story truly resonated with me. I believe that their son Jeffrey chose me to meet Vicki and Fred on that particular night. I keep a picture of Jeffrey at my desk which is a continuous reminder to work as hard as I can, on his behalf. Vicki and Fred have truly inspired me to live for something greater than myself.

What aspect of JMF do you find most special? The work I do at JMF gives me the most fulfilling feeling at the end of the day. Knowing that I am helping save children’s lives is the most gratifying feeling. The global presence of JMF is truly unbelievable and being relatively new to JMF, I have the utmost respect for Vicki, Fred, and the rest of the JMF family.

What’s your favorite JMF memory? I love hearing about the stories of children’s lives that have been saved through JMF’s efforts, particularly through Newborn Screening.

Favorite Quote: “You only live once, but if you do it right, once is enough.“ -Mae West

To Sum Up! I grew up in Rabat, Morocco and went to college at Indiana University. I love to travel, workout, read, and discuss politics/current events. I am a very easygoing guy.

The American Academy of Allergy, Asthma & Immunology (AAAAI) recently announced that Fred and Vicki Modell are this year’s Distinguished Laypersons Award recipients. AAAAI is a professional organization with more than 6,800 members in the United States, Canada and 72 other countries. The organization is dedicated to the advancement of the knowledge and practice of allergy, asthma and immunology for optimal patient care.

This Award is granted to non-medical people known to have made substantial contributions to the fields of Allergy, Asthma and Immunology.

Fred and Vicki Modell began advocating for Primary Immunodeficiency in 1987. Since then, they have made tremendous strides within the Primary Immunodeficiency community, further enhancing research, awareness, and education for physicians, patients and the public.

One of their many significant accomplishments includes advocacy for the importance of Newborn Screening of Severe Combined Immune Deficiency (SCID), resulting in the implementation of mandatory screening in 27 states across the country.

Upon receiving this honor, Vicki Modell commented, “Jeffrey never knew how he would change our lives forever and the lives of so many thousands of children he would never meet. For all of those children… for all of those children yet to be born… and on behalf of Jeffrey… we accept this prestigious award with profound appreciation and deep humility.”

President Obama announced a major biomedical research initiative, including plans to collect genetic data on one million Americans so scientists could develop drugs and treatments tailored to the characteristics of individual patients.

White House officials said the “Precision Medicine Initiative” would begin with a down payment of $215 million in the President’s budget request for the fiscal year, starting October 1.

The new initiative included in his budget would fund research into precision medicine, often referred to as personalized medicine, which tailors treatment to genetic and other factors of individual patients. The President stated “it gives us one of the greatest opportunities for new medical breakthroughs that we have ever seen.”

The International Nursing Group for Immunodeficiencies (INGID) announced today the launch of a new e-learning course titled ‘Immunoglobulin Therapy: One Size Doesn’t Fit All’. The e-learning course is aimed at nurses and other medical professionals who have patients needing immunoglobulin therapy.

The e-learning course has been developed by an international panel of experts in the field of immunoglobulin therapy in cooperation with the CME provider Medicalwriters.com and made available on ingid.medicaleducation.md.

The International Council of Nurses (ICN) has accredited the course and those who successfully complete the course and pass the online exam will receive one International Nursing Education Credit (ICNEC), which is equivalent to 60 minutes of accredited continuous learning.

'We’re excited to provide this new online course. Immunoglobulin therapy has been in use for more than 60 years and provides the patient with a variety of antibodies that have been proven to be beneficial in many people who require them, and in some conditions they are life-saving.

Although Immunoglobulin has an excellent safety record, it is important to understand the circumstances that could potentially give adverse reactions, the brands of Immunoglobulin and the route they can be administered by and how. It is only recently that we have come to realize that not all patients have the same preferences when it comes to their treatment options., says Amena Warner, newly elected INGID President.

Amena also stated that ‘It is important for all of us in the healthcare profession to have a current knowledge of the developments in the field. The continued development through the ingid.medicaleducation.mdplatform is vital to improving standards of care. We're looking forward to providing more courses in the future.’

About Immunoglobulin Therapy

The fraction of blood plasma that contains immunoglobulins (Ig), or antibodies is known as “immunoglobulin”. Individuals who are not able to produce sufficient amounts of Ig or antibodies, such as patients with XLA, CVID, Hyper-IgM Syndromes, Wiskott Aldrich Syndrome or other forms of hypogammaglobulinemia, may benefit from replacement therapy with Ig.

About INGID

The International Nursing Group for Immunodeficiencies (INGID) was formed in 1994 by nurses who were working with children and adults diagnosed with primary immunodeficiency disorders.

About Medicaleducation.com and Medicaleducation.md

Medicaleducation.md is a new medical e-learning platform provided by MedicalWriters.com. Medicalwriters.com is a medical marketing and communications agency that helps healthcare businesses, providers and associations capture, create and communicate medical information.

The Jeffrey Modell Foundation is proud to announce that our very dear friend, Alain Fischer, MD, PhD, from Hôpital Necker-Enfants Malades and the Imagine Institute in Paris, France is a recipient of the prestigious 2015 Japan Prize.

The award recognizes Dr. Alain Fischer’s ground-breaking, life-saving research and clinical application of gene therapy, and how it has and will continue, to change the world for this generation and those yet to be born. We are so proud to have been a part of his gene therapy journey, since 2000, and so grateful that he is a part of our Primary Immunodeficiency world!

Living with PI sometimes means having to visit the doctor more frequently than others.

Our friends at Children’s of Alabama and Kids Health have provided tips to help parents prepare their child for a doctor’s visit, how to address common fears and concerns, and how to help children express these fears and overcome them.

Fifty years ago this week, a journal article revealed that there are two types of lymphocytes. This insight shaped the course of modern Immunology and influenced the study and care of Immunodeficiency conditions, Cancers of the immune system and the development of monoclonal antibodies — powerful research tools and therapeutics.

Reflect on the discovery of these two lineages of adaptive immune cells, and how they influenced vaccinations, cancer therapies and the development of a class of antibody-based drugs. “Immunology: Fifty years of B lymphocytes”

At the Jeffrey Modell Foundation, we strive to do good every day and we are excited to further spread our mission about the importance of education and awareness about Primary Immunodeficiency!

Join JMF by posting a picture of yourself creating bubbles on Facebook! Add the caption “I’m joining the Jeffrey Modell Foundation to help “Burst the Bubble” about PI! Learn the 10 Warning Signs of Primary Immunodeficiency and much more by visiting www.info4pi.org! #JMF #info4pi”

You can use soap bubbles, make a bubble from your chewing gum, or even blow them in your chocolate milk – the options are endless and we are excited to see the creative and unique ways our community will participate.

Be Clever! Be Cheerful! Be Creative!

The best part is that you can "Burst the Bubble" anywhere and with anyone!

How will you help “Burst the Bubble” about Primary Immunodeficiency? We look forward to seeing what you create and share with the JMF family. Don’t forget to post your pictures to our Facebook page, tag us, and include the #JMF & #info4pi hashtags!

Targeted sequencing is a preferred initial choice for PID diagnostics and has great potential as a first-line genetic test.

Whole genome sequencing is currently approaching the $1,000 milestone. Yet, the cost of a gene targeted library preparation kit is still much lower (~$100 per sample, and a sequencing cost in the same range).

The Patient Notification System (PNS) is the first of its kind, a system designed to inform and empower patients with important information on all brands of immune globulins, blood clotting factors, alpha-1 proteinase inhibitors and other lifesaving plasma protein therapies; and it’s all done confidentially!

To learn more about this system and how to register, visit the websites below!

When did you start working with the JMF? Since 2008 at a symposium entitled ‘’PIDs beyond Europe’’ during the ESID meeting which took place in The Netherlands.

Profession and Location: M.D., Ph.D. Professor of Medicine at the Medical School, University of Tunis El Manar, Head of Department and Director of Research Laboratory at the Institut Pasteur de Tunis, Tunis, Tunisia

What inspires you? To progress in anything I do, including helping provide a better life for patients and their families.

What aspect of JMF do you find most special? The opportunity to share experiences and knowledge with a fantastic community of colleagues, facilitated by brilliant hosts and friends of everyone.

What’s your favorite JMF memory? The contribution of Vicki and Fred to the second ASID meeting in Hammamet, Tunisia which translated their permanent commitment to advance PIDs cause everywhere.

Favorite Quote: "There is hope…always!"

To Sum Up! I grew up in the small island of Jerba in Southern Tunisia, I think that the marvelous Mediterranean sea around me –beautiful and mysterious- had a major impact since then on my permanent quest to better discover, understand and appreciate people and things around me and beyond.

Two different genetic analysis techniques were applied in these patients including whole exome sequencing in one patient and the use of a gene panel designed to target genes known to cause Primary Immunodeficiency disorders in a second patient. Sanger dideoxy sequencing was used to confirm RAG1 mutations in both patients.

What aspect of JMF do you find most special? A charity that single handedly transformed the field of Primary Immunodeficiency into a scientific and educational powerhouse for the benefit of individuals afflicted with immunodeficiency.

What’s your favorite JMF memory? The inception of the JMF Network

Favorite Expression: How can I help you?

To Sum Up! First and foremost, I am a loving and devoted partner to my wife Perach; proud father to Idan, Rona and Maian; and a complete voluntary prisoner to my gorgeous grandchildren. I am a clinician-scientist-educator and advocate for PID. I created, or helped create 7 (inter)national organizations promoting PID research and awareness. I conduct research into the molecular basis of PID, and signal transduction in lymphocytes. I have improved outcome of bone marrow transplantation in severe combined immunodeficiency, defined dosing and new indications for IVIG, and developed novel anti-cancer agents. I am a recipient of numerous awards including the E Mead Johnson award, the Henry Friesen Award, and the Donald and Audrey Campbell Chair. I hold 142 patents, have authored over 300 peer-reviewed articles in high impact journals like Cell, Nature, New England Journal of Medicine and JAMA, and attained multiple grants from agencies such as NCI, CIHR, OCRN, NIH, and others. I am fortunate to be supported by scientists in my laboratory, close colleagues and friends, and very proud of the achievements of my students. I am also lucky to be presented with the rare opportunity of disseminating scientific information related to PID as editor in Chief of LymphoSign Journal.

When did you start working with the JMF? I began working with the JMF at the start of Allergy/Immunology Fellowship at Mount Sinai in July 2011. The JMF has generously supported fellows-in-training at Mount Sinai for many years so that they receive top-notch training in clinical care and research in the field of primary immunodeficiencies. Now that I am at my early stages as an academic faculty member, the JMF has been absolutely pivotal in allowing me to have protected time to continue my research endeavors and apply for grants as an early career investigator.

Profession and Location: Instructor, Division of Clinical Immunology, Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY

What inspires you? People who are passionate about what they do, in work and play. It is so easy to get into a routine, get by with the minimum, and let life and opportunities pass you by. When I see those who are really trying to be the best at what do professionally, whatever it may be, and try to get the most out of life every day, it wakes me up out of that easy routine and reminds me to try to be one of those people myself.

What aspect of JMF do you find most special? Speaking from experience, I can say that I think the JMF’s commitment to fellows-in-training is quite special. Not only has the JMF supported our fellowship training program at Mount Sinai for many years, but it has also made available research and travel grants to those who really need it. These grants are absolutely vital for fellows-in-training and early career faculty who have limited financial support to conduct research or attend conferences.

What’s your favorite JMF memory? I actually had the opportunity to sit next to Rochelle Hirschhorn at dinner at a JMF event this past year. Not only did she discover ADA deficiency, a type of severe combined immunodeficiency, but she also predicted that it could be treated with gene therapy, which we now have increasing optimism may become a reality for many children with this form of primary immunodeficiency. She is a real giant in the field of immunology and truly an inspiration when you consider that this work was done during a time when women physician-scientists were not common or eagerly accepted. I cherish the conversation I had with that night Dr. Hisrchhorn very much.

Favorite Quote: This might be silly because it is a quote from television, but one quote by Jean-Luc Picard (Captain of the Enterprise from Star Trek the Next Generation!), “Things are only impossible until they are not,” has always stuck with me. These words come into my head often when faced with difficult clinical or research scenarios that seem hopeless. We should believe that we will make new therapies and treatments for diseases that seem impossible to treat, because that’s all we have ever done. Similarly, when we think about research we have to remember to not be afraid to challenge scientific dogmas, because that is the only way we’ve ever moved forward. Jean Luc-Picard was an inspiring guy!

To Sum Up! I’ve had a longstanding interest in immunology, ever since I was introduced to it in high school biology class. I was so enamored with the topic that I picked a college because it had an undergraduate immunology major and wrote a research paper on B cells in the first semester of my freshman year. I pursued an MD/PhD because I thought it would give me the best chance to learn all aspects of immunology, both basic science and clinical medicine, and met with my current clinical and research mentor, Charlotte Cunningham-Rundles, years before I started fellowship in clinical immunology. I have been pursuing a career in immunology for quite a long time. It is so exciting to have finally gotten this far.

On December 30, 2014, after years of committed advocacy and “cutting edge” research, the State of Israel passed a resolution to screen every newborn in the country for SCID. This was a collaboration that started with the Jeffrey Modell Centers Network in Israel and the many talented, passionate, and brilliant physicians, including Dr. Raz Somech and Dr. Amos Etzioni, who made the dream a reality.

Dr. Raz Somech, Sheba Medical Center, Tel Aviv said that he is so “proud, excited and thrilled” and that he thinks this is the greatest achievement of his career. Dr. Amos Etzioni, Meyer Children’s Hospital, Haifa expressed that this will change the course of Primary Immunodeficiency in Israel and have a profound impact upon so many young lives. Vicki Modell, Co-Founder of the Jeffrey Modell Foundation said, “together with these talented physicians in our Network, the Jeffrey Modell Foundation continues to advocate for newborn screening for SCID worldwide and to improve the quality of life of those affected with Primary Immunodeficiency. We are now one step closer to curing PI worldwide… changing the world one baby at a time.”

In 2010, California launched a pilot program for Newborn Screening for Severe Combined Immunodeficiency (SCID), of which the Jeffrey Modell Foundation played a huge role.

Along with Dr. Jennifer Puck, Professor of Immunology and Medical Director of the Pediatric Clinical Research Center at UCSF, they were able to connect with the California government officials to prioritize this test.

Finally in 2011, California became the third state to implement mandatory screening for SCID.

For the first time, the FDA is allowing the marketing of a newborn screening test that will enable states to incorporate an FDA approved SCID test into their standard newborn screening panels and to obtain earlier identification for affected individuals.

Congress recently passed a new bill that amends the Public Health Service Act. This update will allow for additional grant programs and funding to promote and encourage screening of newborns and children for inherited disorders. This will provide increased funding and recognition for the diagnosis for Severe Combined Immunodeficiency (SCID).

This bill is currently on route to the White House where it will go to President Obama for his signature, securing its place in US law.

When did you start working with the JMF? On December 2011 I evaluated a 2-month-old girl with severe mucocutaneous candidiasis. Her name was Sami Toro. At that time my career in PID was not yet initiated, so I did not know how to help the baby. Then, I contacted Vicki Modell by email. She suggested me to contact Dr. Antonio Condino, who referred me to Dr. Jacinta Bustamante, Dr. Anne Puel and Dr. Jean-Laurent Casanova (Paris, France). Some months later, they found a gain-of-funcion STAT1 mutation. This patient settled the initiation of our PID work and my PID career. JMF had an essential participation in this wonderful story.

What aspect of JMF do you find most special? Their love to PID patients. Their wonderful organization.

What’s your favorite JMF memory? The first e-mail that Vicki sent me, with the precise counsel for us to help Sami Toro. This baby started my PID career.

Favorite Expression: Every day is a new journey to improve PID work in Peru.

To Sum Up! I am honored to be part of the JMF team. It is a privilege to receive such support. The improvement of PID children makes me feel happy and useful. I love teaching about Immunology in a simple and funny way. I love playing soccer. My family (parents, brother and sister) gives me a lot of support. I strongly believe in God’s love and power.

At JMF, we’re always looking to find new and creative ways to help educate about Primary Immunodeficiency. Medikidz is a comic book company dedicated to helping explain medical conditions to children through fun stories, and have created a story around PI.

Role: Chief Financial Officer. I am responsible for the day to day financial coordination and reporting on the financial activities of the Foundation.

What inspires you? Passion, compassion and acts of kindness. Our Roots and Wings Program brings all of that together. What can be more inspiring than helping to save the life of a child?

What aspect of JMF do you find most special? The ability to see the realization of Fred and Vicki’s visions and dreams. As an example, when I first interviewed at JMF 13 years ago, I asked “what does the Foundation hope to be doing 5 years from now”. The answer was Newborn Screening. With much hard work and passion on their part, I have had the privilege of watching that dream come true. Even more special is hearing the success stories of the children whose lives have been saved because of it.

What’s your favorite JMF memory? I have so many over the years it would be hard to pick just one. Meeting the families and the doctors who care for them at our New York City KIDs Days and spending time with them is special. Watching the kids having a great time and forgetting about PI for just a little while personalizes the work of The Foundation for me.

Favorite Quote: “Start each day with a grateful heart” ~ unknown

To Sum Up! My favorite thing to do is to cook a good meal for my friends and family. I enjoy growing a herb garden each summer and incorporating the herbs into the dishes I cook. I love to garden and look forward to watching the flowers emerge each spring, coloring the landscape.

The Jeffrey Modell Foundation recently launched CHILDREN!®, the Child Health Initiative to Lessen Disease through Research and Education Now!. Focused on innovative ways to better educate the medical community and better the lives of those affected by Primary Immunodeficiency, we're concentrating on the next generation of expert immunologists.

The focus of this grant program is to investigate immunological disorders, control of infectious disease, initiatives to decrease infant mortality and healthcare disparities.

JMF is now launching SPIRIT software, capable of saving up to $40 billion in unnecessary healthcare costs.

It is estimated by the U.S. National Institutes of Health (NIH) that as many as 3-6 million Americans are affected by PI, and most are not aware of the underlying cause of their repeated infections. An initial study demonstrated that annually an undiagnosed patient costs the healthcare system an average of$108,462morethan a diagnosed patient –representing more than$40 billionin unnecessary healthcare cost in the US.

This highly advanced screening tool will be introduced to major healthcare organizations in 2015.

Led by Dr. Donald Kohn, researchers at UCLA announced today that they had cured 18 children who were born with Severe Combined Immunodeficiency (SCID).

“All of the children with SCID that I have treated in these stem cell clinical trials would have died in a year or less without this gene therapy. Instead they are all thriving with fully functioning immune systems.” –Dr. Donald Kohn

Four million newborns in the United States are routinely screened annually for a variety of conditions.

Severe Combined Immunodeficiency (SCID) is a life threatening condition in which infants fail to develop a normal immune system. Undetected and untreated, the baby will die before his or her first birthday. But with newborn screening, they can be diagnosed and cured with a bone marrow transplant.

Three years ago, no states were screening babies for SCID. The Jeffrey Modell Foundation (JMF) contributed over $3 million towards programs for Newborn Screening for SCID.

As explained byVicki Modell, "We have heard from too many grieving parents whose babies were tragically lost to SCID. But now that we can screen and cure babies that are affected, we cannot stand by for another day, and watch precious babies die. We will fight for these babies and offer funding to every state that implements a Population Screening Program for SCID. This is an historic journey, and we hope to wipe out this fatal disease forever."

Role: Scientific Director – Oversight of all things “science” at the Foundation. This involves global collaboration to coordinate our 3 Research Programs, publications in scientific journals, JMF’s annual Physician Survey, our current poliovirus excretion prevalence study (for which we have partnered with the Bill and Melinda Gates Foundation, the Task Force for Global Health, the CDC, and Global Polio Lab Network), and any/all additional projects that may arise!

What inspires you? Passion, genuine kindness, and resilience.

What aspect of JMF do you find most special? The passion behind the Foundation and the breadth of its reach. JMF’s history of achievements is remarkable, as is its goals for the future. I find contentment in the fact that no matter the task at hand, it all comes back to a single, meaningful mission: improve and save lives. This makes me proud to come to work every day.

What’s your favorite JMF memory? The WPIW celebration at JMF Headquarters in NYC in April of 2014. At that point, I’d been working here for only 1 month and was still learning the ins and outs of the Foundation. That day I was lucky enough to meet Jared, the last baby screened in a Newborn Screening pilot program in Puerto Rico who happened to have SCID. Because he was screened as a newborn, Jared was able to receive a bone marrow transplant, which saved his life. Jared was able to be with us that day, to run around and play, because of a simple test. This put things in perspective for me and solidified the already poignant mission of the Foundation in my heart and mind.

Favorite Quote: “Never touch anything with half of your heart” and “If I look at the mass I will never act. If I look at the one, I will.”

To Sum Up! I’m a daughter/sister/aunt/friend/woman with a passion for science, public health, and helping others however I’m able. I love to workout, travel, read, and cuddle with my dog, Putty!

Ezra Dixon was nearly the 23,000th baby in Washington State tested since screening became law at the start of the year, and he was the first hit. He was born after state-mandated testing for SCID and with early detection; doctors were able to save his life.

The Jeffrey Modell Foundation continues to advocate for mandatory Newborn Screening for SCID across the country, and the Dixon’s story is proof as to why this is a life-saving and life-changing necessity!

It is estimated that as many as 10 million people, are living with PI worldwide. Over the past decade, the information and detection of Primary Immunodeficiency has greatly expanded, and knowledge of causative genes continues to rapidly grow.

In this context, JMF established the Translational Research Program to expand upon the knowledge and understanding of Primary Immunodeficiency; how to identify, diagnose and treat.

Translational Research grants are awarded to physicians and scientists who are prominent in their field with vast expertise in PI, from countries all over the world.

In a recently released NIH study, babies identified with SCID had a higher survival rate when diagnosed I the first 3.5 months of life.

“Our findings indicate that early transplantation and absence of infection are critical to achieving the best transplant outcomes for infants with this serious disorder,” said Daniel Rotrosen, M.D., director of NIAID’s Division of Allery, Immunology, and Transplantation, National Institutes of Health (NIH).

“The results of this study highlight the important role of newborn screening for SCID” according to NIAID Director Anthony S. Fauci, M.D..

JMF teams up with CSL Behring and National Association of School Nurses to help reduce the number of undiagnosed cases of Primary Immunodeficiency in school children.

English and Spanish-version posters created by the Jeffrey Modell Foundation will be mailed to approximately 16,000 NASN members; school nurses reach 98 percent of the 50 million students in U.S. public schools, grades K-12.

"Educating school nurses about the immune system and the 10 Warning Signs of primary immunodeficiency will lead to early and precise diagnosis, appropriate treatment and improved quality of life." – Vicki Modell

Researchers, in what's considered the first look at the national impact of Severe Combined Immune Deficiency (SCID), or “Bubble Boy Disorder” found that 1 in 58,000 newborns are affected instead of 1 in 100,000 as previously estimated on much more limited data. This highlights the importance of screening newborns for conditions that can be treated.

The Translational Research Program provides support for innovative and novel investigations in Primary Immunodeficiency. We aspire to encourage researchers and physicians from all over the world to apply in order to enhance the understanding and knowledge of the immune system.

The Jeffrey Modell Foundation has long been a global advocate for the awareness and education of Primary Immunodeficiency. We are a cross-continental team, made up of a vast group of brilliant people, each with their own master craft. In order to keep our team as forward-thinking as possible, we created the Translation Research Program – to further strengthen our community.

Our mission is clear; the goal is to improve the quality of life of those affected by Primary Immunodeficiency!

Grants are peer-reviewed and scored by the JMF Research Committee, consisting of physicians and scientists with an extensive depth of knowledge of Immunology. This year we have been fortunate enough to receive several outstanding and inspiring applicants from all over the world.

All of our awardees are wonderful additions with remarkable talent whose contributions are sure to be invaluable and to bring us one step closer to more meaningful treatments and cures for Primary Immunodeficiency.

Cycle One Recipients:

One physician from Descartes University Laboratory of Human Genetics of Infectious Diseases, Hôpital Necker-Enfants Malade in Paris, France, has been honored with an award for the proposal titled "Novel Primary Immunodeficiencies Underlying Invasive Fungal Disease".

Another physician from Harvard Medical School, Children’s Hospital Boston in Boston, Massachusetts, will also receive an award for the proposal titled “Development of a Genomic Platform for the Sensitive Diagnosis of Primary Immunodeficiencies”.

Cycle Two Recipients:

One physician from Pediatrics Clinic and Institute for Molecular Medicine, in Brescia, Italy, will conduct work based on the proposal entitled “Genotype-phenotype correlation and functional in vitro studies in XLA patients: evaluation of predictive parameters for clinical outcome and prognosis”.

Another physician from General Pediatric Department, Pediatric Immunology Services, “Edmond and Lilly Safra” Children’s Hospital, Sheba Medical Center, Tel Hashomer, Israel was awarded for the proposal titled “Understanding the genetics and pathomechanisms of primary Immunodeficiencies of neutrophils in Israeli and Palestinian patients – bridging between two cultures”.

The third honoree for cycle 2, from Children’s Research Institute in Washington D.C., USA, will be conducting research based on the proposal titled “Adoptive Immunotherapy for Treatment of Viral Infections in Primary Immunodeficiency Disorders”.

Cycle Three Recipients:

One physician from the Experimental Laboratory Immunology, Department of Microbiology and Immunology, Catholic University of Leuven, Belgium will conduct research based on the proposal “Unraveling defects in the Toll-like receptor and NF-kB pathway”.

The second physician from Baylor College of Medicine, Texas, USA was awarded for the proposal titled “An Emerging Paradigm: Novel Primary Immunodeficiency Diseases Caused By Two-Gene Defects”.

Cycle Four Recipients:

One physician from the Cincinnati Children’s Hospital in Ohio, USA, will conduct research based on the proposal “Mechanisms of LRBA-mediated immune regulation”.

The second award presented to physicians from CeMM in Vienna, Austria, and Erasmus MC in Rotterdam, Netherlands will focus on “New insights into DNA repair disorders: integrating genomics and functional studies for developing diagnostic and therapeutic approaches”.

Cycle Five Recipient:

This honoree from Bellvitge Biomedical Research Institute (IDIBELL) from Barcelona, Spain will conduct research based on the proposal entitled “Assessing Epigenomic Heterogeneity and its Pathological Consequences in Common Variable Immunodeficiency”.

Cycle Six Recipient:

The cycle six honoree from the University of Colorado, Denver, Children’s Hospital of Colorado in Aurora, Colorado will conduct research based on the proposal, “Understanding genetic and immune cellular-signaling defects in common variable immunodeficiency (CVID) with granulomatous lymphocytic interstitial lung disease (GLILD)”

If you would like any additional information about the JMF Translational Research Program please connect with the Jeffrey Modell Foundation at research@jmfworld.org.

Did you know that there are currently more than 250 different Primary Immunodeficiency defects?

The Primary Immunodeficiency umbrella covers a wide array of disorders, each with its own characteristics, phenotypes and genotypes. Along with limited knowledge of how some PI’s are identified, managed and cured, patients require unique and individual medical attention.

In order to help bridge the gap between diagnosis and treatment, the Jeffrey Modell Foundation set up the Specific Defect Research Program to support research to study specific defects of the immune system, leading to a better understanding of these conditions. JMF’s database includes high numbers of various genotypes collected from around the world, providing a wealth of knowledge and a collaboration platform for physicians and scientists everywhere.

JMF encourages the Primary Immunodeficiency community to expand upon this list of Specific Defect Research Grants. Awards are granted on a rolling basis throughout the year, and open to both United States and international applicants.

As of the middle of 2018, there are 22 Specific Defect Research Grants that have been awarded

ARTEMIS

Autoimmune Cytopenias

CARD9/CMC

Chronic Mucocutaneous Candidiasis Disease

Common Variable Immunodeficiency

Congenital Agammaglobulinemia

FOXP3/IPEX

FOXP3/Regulatory T cells

Fulminant viral hepatitis

IL10 Receptor Deficiency

IPEX/IPEX like syndromes

MHC Polymorphisms in CVID

RAG1/RAG2 deficiencies

STAT3

Streptococcus Pneumonia in CVID

WES to identify new genetic phenotypes

WGS to identify pathogenic gene mutations underlying PI

WHIM

X-Linked CGD

X-Linked Hyper IgM syndrome

XMEN

Zap70 deficiency

We are extremely proud of our grant recipients, excited about their research and enthusiastic about the discoveries each will uncover - further expanding our knowledge about Primary Immunodeficiency and how to cure patients.

If you would like any additional information about the JMF Specific Defect Research Program, connect with us at research@jmfworld.org.

The Jeffrey Modell Foundation is proud to announce the launch of our new website, the Global PI Village.

The aim of our Global Village is to bring our diverse community of patients, families, friends, physicians, nurses, and patient organizations from around the world closer together.

Upon entering the Village, you will meet your personal guide, better known as the Village Mayor. He will direct you to unique research programs for Expert Immunologists, to FAQs and educational materials for patients and families, to our advocacy and awareness efforts, or to our Café to connect with members of our community.

Wherever your journey takes you, the Foundation is here to help you reach your destination. We now have the opportunity to help diagnose more patients, improve their quality of life, advance new treatments, and ultimately, find cures for Primary Immunodeficiency.

“Our community can now reach all corners of the globe. No ocean or border can prevent us from reaching new heights and growing together,” says Co-Founder Vicki Modell.

We are honored to be your number-one global resource for up-to-date information and support and would like to officially welcome you to the neighborhood!

Start Again
Let’s start from the beginning! Click here for an overview of the Village.